Searchable abstracts of presentations at key conferences in endocrinology

ea0035p724 | Neuroendocrinology | ECE2014

Treatment of SIADH in a patient with fatal familial insomnia (FFI) and hypersomnia

Hoyos Emilia Gomez , Gracia Teresa Ruiz , Azorin David Garcia , Hernandez Martin Cuesta , Buigues Ana Ortola , Hernandez Irene Crespo , Orozco Francisco Martinez , Pascual Alfonso Luis Calle , Dolado Alberto Marco , Vega Isabelle Runkle de la

Introduction: Fatal insomnia is a neurodegenerative spongiform prion disease. Presentation can be sporadic or hereditary (autonomal dominant). The latter, FFI, is caused by a mutation in the human prion protein gene on chromosome 20. Affected individuals present a disorderd sleep-wake cycle, dysautonomia and motor signs, with a predominance of lesions in the thalamus. SIADH has been described in two affected patients.Case Study: A 70-year-old woman was r...